Mustafa Sahin, MD, PhD
Neurologist-in-Chief, Department of Neurology; Managing Director, Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center; Director, Translational Research Program
Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center Chair Professor of Neurology, Harvard Medical School
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Mustafa Sahin, MD, PhD
Neurologist-in-Chief, Department of Neurology; Managing Director, Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center; Director, Translational Research Program
Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center Chair Professor of Neurology, Harvard Medical School
Medical Services
Languages
English
Turkish
Education
Medical School
Yale Medical School
1995
New Haven
CT
Internship
Children's Hospital of Philadelphia
1996
Philadelphia
PA
Residency
Children's Hospital of Philadelphia
1997
Philadelphia
PA
Residency
Boston Children's Hospital
2000
Boston
MA
Certifications
American Board of Psychiatry and Neurology (Child and Adolescent Neurology)
Professional History
We’re honored that Dr. Sahin has been elected to the National Academy of Medicine for 2023, for his world-leading expertise in the neurobiology of autism and pioneering translational studies for neurogenetic disorders. His work has identified mechanisms by which tuberous sclerosis leads to mis-wiring of neurons, leading to the identification of potential therapies for this and related disorders.
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I have dedicated my career to investigating the basic mechanisms by which nerve cells communicate with one another and caring for patients with neurological conditions in whom these processes have gone awry. During my PhD work, I studied a group of enzymes expressed in the developing brain. This immersion in neurodevelopment contributed to my decision to pursue child neurology training. After training as a child neurologist, I returned to the lab and investigated basic mechanisms of how the brain gets wired.
As an independent physician-scientist, I turned my focus to Tuberous Sclerosis Complex (TSC), a neurogenetic disorder associated with epilepsy, intellectual disability and autism. My laboratory has identified several steps during brain development in which genes that cause TSC play crucial roles. As director of the multi-disciplinary TSC clinic at Boston Children’s Hospital (BCH), I am in a unique position to translate our basic science findings to TSC patients. My goal is to translate insights gained from studying brain development to improvements in patient care through early detection, treatment and prevention of problems associated with TSC and related neurological diseases.
Dr. Sahin serves as an expert for the Department of Neurology for Boston Children's Hospital Precision Medicine Service. For more information about the Precision Medicine Service please visit bostonchildrens.org/precisionmed.
Approach to Care
I chose child neurology as a specialty because of my fascination with how the brain develops. Child neurology as a field is going through an immense change. We are moving from just describing symptoms and giving clinical diagnoses to actually figuring our what gene or mechanism is causing the disease and in some cases offering mechanism-based treatments. Both in the lab and in the clinic, my goal is to bring new treatments to childhood neurological diseases and improve the lives of children and families affected by these conditions.
Publications
Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns. View Abstract
Prevalence, Characteristics, and Management of Pancreatic Tumors Among Children With Tuberous Sclerosis Complex. View Abstract
Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome. View Abstract
Epilepsy surgery in Sturge-Weber syndrome with unilateral or bilateral asymmetric brain involvement: Boston Children's Hospital experience. View Abstract
PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors. View Abstract
Arrayed CRISPR/Cas9 Loss-Of-Function Screen in a Neuronal Model of Adaptor Protein Complex 4 Deficiency Identifies Modulators of ATG9A Trafficking. View Abstract
Phenotypic rescue via mTOR inhibition in neuron-specific Pten knockout mice reveals AKT and mTORC1-site specific changes. View Abstract
Using cortical organoids to understand the pathogenesis of malformations of cortical development. View Abstract
Harnessing the potential of human induced pluripotent stem cells, functional assays and machine learning for neurodevelopmental disorders. View Abstract
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND. View Abstract
Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability. View Abstract
Construction destruction: Contribution of dyregulated proteostasis to neurodevelopmental disorders. View Abstract
Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders. View Abstract
Excitatory Cortical Neurons from CDKL5 Deficiency Disorder Patient-Derived Organoids Show Early Hyperexcitability Not Identified in Neurogenin2 Induced Neurons. View Abstract
Accumulated seizure burden predicts neurodevelopmental outcome at 36?months of age in patients with tuberous sclerosis complex. View Abstract
Thyroid and cardiovascular diseases. View Abstract
A Hybrid 2D-to-3D in vitro Differentiation Platform Improves Outcomes of Cerebral Cortical Organoid Generation in hiPSCs. View Abstract
Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders. View Abstract
AKT-mediated phosphorylation of TSC2 controls stimulus- and tissue-specific mTORC1 signaling and organ growth. View Abstract
Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome. View Abstract
A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop. View Abstract
Evaluation and follow-up of patients diagnosed with hypophysitis: a cohort study. View Abstract
Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial. View Abstract
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient. View Abstract
Common human leucocyte antigensassociated with the development of subacute thyroiditis and COVID-19. View Abstract
Human TSC2 Mutant Cells Exhibit Aberrations in Early Neurodevelopment Accompanied by Changes in the DNA Methylome. View Abstract
Rescue of impaired blood-brain barrier in tuberous sclerosis complex patient derived neurovascular unit. View Abstract
Abnormality of Early White Matter Development in Tuberous Sclerosis Complex and Autism Spectrum Disorder: Longitudinal Analysis of Diffusion Tensor Imaging Measures. View Abstract
Variation in neuroimaging and outcomes in patients with Sturge Weber syndrome Type III. View Abstract
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome. View Abstract
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder. View Abstract
Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls. View Abstract
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency. View Abstract
Exploring the neurological features of individuals with germline PTEN variants: A multicenter study. View Abstract
Publisher Correction to: Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex. View Abstract
Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex. View Abstract
Defining the relationship between ovarian adult granulosa cell tumors and synchronous endometrial pathology: Does ovarian tumor size correlate with endometrial cancer? View Abstract
High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia. View Abstract
The role of TSC1 and TSC2 proteins in neuronal axons. View Abstract
Rodent Models for ASD Biomarker Development. View Abstract
Combining Off-flow, a Nextflow-coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCs. View Abstract
ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations. View Abstract
Rescue of Impaired Blood-Brain Barrier in Tuberous Sclerosis Complex Patient Derived Neurovascular Unit. View Abstract
Clinical variants paired with phenotype: A rich resource for brain gene curation. View Abstract
Non-canonical functions of a mutant TSC2 protein in mitotic division. View Abstract
Effect of physical activity level on pain, functionality, and quality of life in migraine patients. View Abstract
International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND). View Abstract
Evaluation of chronic pruritus and associated skin findings in patients with diabetes mellitus. View Abstract
S6K1 Regulates GSK3 under Conditions of mTOR-Dependent Feedback Inhibition of Akt. View Abstract
Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial. View Abstract
Seizure reduction in TSC2-mutant mouse model by an mTOR catalytic inhibitor. View Abstract
Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes. View Abstract
Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex. View Abstract
Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia. View Abstract
Development and Feasibility of the Self-Report Quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ). View Abstract
Updated consensus guidelines on the management of Phelan-McDermid syndrome. View Abstract
High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia. View Abstract
Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex. View Abstract
Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies. View Abstract
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. View Abstract
Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes. View Abstract
Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis Complex. View Abstract
Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change. View Abstract
A Robust Pipeline for the Multi-Stage Accelerated Differentiation of Functional 3D Cortical Organoids from Human Pluripotent Stem Cells. View Abstract
Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies. View Abstract
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis. View Abstract
Tubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis. View Abstract
16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons. View Abstract
A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome. View Abstract
Dynamic 3D Combinatorial Generation of hPSC-Derived Neuromesodermal Organoids With Diverse Regional and Cellular Identities. View Abstract
Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome. View Abstract
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. View Abstract
DEPDC5-dependent mTORC1 signaling mechanisms are critical for the anti-seizure effects of acute fasting. View Abstract
GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy. View Abstract
Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome. View Abstract
Newborn screening for neurodevelopmental diseases: Are we there yet? View Abstract
Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis. View Abstract
Limited utility of structural MRI to identify the epileptogenic zone in young children with tuberous sclerosis. View Abstract
Molecular Signatures of Response to Mecasermin in Children With Rett Syndrome. View Abstract
The non-essential TSC complex component TBC1D7 restricts tissue mTORC1 signaling and brain and neuron growth. View Abstract
Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders. View Abstract
Translating Ribosome Affinity Purification (TRAP) of Cell Type-specific mRNA from Mouse Brain Lysates. View Abstract
Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers. View Abstract
Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis. View Abstract
Empowering Families Through Technology: A Mobile-Health Project to Reduce the TAND Identification and Treatment Gap (TANDem). View Abstract
AP-4-mediated axonal transport controls endocannabinoid production in neurons. View Abstract
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium. View Abstract
Single-cell dissection of the human brain vasculature. View Abstract
The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review. View Abstract
Characterizing dermatologic findings among patients with PTEN hamartoma tumor syndrome: Results of a multicenter cohort study. View Abstract
Mendelian etiologies identified with whole exome sequencing in cerebral palsy. View Abstract
Developing and evaluating treatments for the challenges of autism and related neurodevelopmental disabilities. View Abstract
Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome. View Abstract
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder. View Abstract
Profile of Autism Spectrum Disorder in Tuberous Sclerosis Complex: Results from a Longitudinal, Prospective, Multisite Study. View Abstract
Neurodevelopmental profile of HIVEP2-related disorder. View Abstract
Multivariate data analysis identifies natural clusters of Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND). View Abstract
Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels. View Abstract
Enhanced prime editing systems by manipulating cellular determinants of editing outcomes. View Abstract
Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder. View Abstract
Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. View Abstract
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia. View Abstract
Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia. View Abstract
Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations. View Abstract
Psychiatric Characteristics Across Individuals With PTEN Mutations. View Abstract
Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report. View Abstract
Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia. View Abstract
Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts. View Abstract
Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex. View Abstract
Factors influencing the acute pentylenetetrazole-induced seizure paradigm and a literature review. View Abstract
16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro. View Abstract
The clinical outcomes of COVID-19 infection in patients with a history of thyroid cancer: A nationwide study. View Abstract
Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome. View Abstract
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50). View Abstract
Balancing serendipity and reproducibility: Pluripotent stem cells as experimental systems for intellectual and developmental disorders. View Abstract
Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD). View Abstract
Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations. View Abstract
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. View Abstract
A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations. View Abstract
Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism. View Abstract
Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network. View Abstract
Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. View Abstract
A Cell-Based Assay Optimized for High-Content Cilia Imaging with Primary Rat Hippocampal Neurons. View Abstract
Correction: p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis. View Abstract
Editorial: Biomarkers to Enable Therapeutics Development in Neurodevelopmental Disorders. View Abstract
Tuberous sclerosis: a review of the past, present, and future View Abstract
Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile. View Abstract
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. View Abstract
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. View Abstract
The Impact of COVID-19 on Individuals With Intellectual and Developmental Disabilities: Clinical and Scientific Priorities. View Abstract
Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex. View Abstract
Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia. View Abstract
LEARNING TO DETECT BRAIN LESIONS FROM NOISY ANNOTATIONS. View Abstract
Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome. View Abstract
Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. View Abstract
Tau: A Novel Entry Point for mTOR-Based Treatments in Autism Spectrum Disorder? View Abstract
Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex. View Abstract
Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex. View Abstract
The Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex. View Abstract
Auditory Processing of Speech and Tones in Children With Tuberous Sclerosis Complex. View Abstract
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52. View Abstract
EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex. View Abstract
Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5. View Abstract
Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex. View Abstract
Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. View Abstract
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. View Abstract
Lesion-Constrained Electrical Source Imaging: A Novel Approach in Epilepsy Surgery for Tuberous Sclerosis Complex. View Abstract
Modeling Neurodevelopmental Deficits in Tuberous Sclerosis Complex with Stem Cell Derived Neural Precursors and Neurons. View Abstract
Language predictors of autism spectrum disorder in young children with tuberous sclerosis complex. View Abstract
Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder. View Abstract
Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study. View Abstract
Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN. View Abstract
Biallelic Mutations in TSC2 Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons. View Abstract
A framework for the investigation of rare genetic disorders in neuropsychiatry. View Abstract
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47). View Abstract
Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice. View Abstract
Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complex. View Abstract
Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study. View Abstract
Resting-State fMRI Networks in Children with Tuberous Sclerosis Complex. View Abstract
Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex. View Abstract
The Evolution of Subclinical Seizures in Children With Tuberous Sclerosis Complex. View Abstract
White matter mean diffusivity correlates with myelination in tuberous sclerosis complex. View Abstract
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. View Abstract
Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. View Abstract
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. View Abstract
Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration. View Abstract
Tuberous Sclerosis Complex Genotypes and Developmental Phenotype. View Abstract
Probing Mechanical Properties of Brain in a Tuberous Sclerosis Model of Autism. View Abstract
Discovering translational biomarkers in neurodevelopmental disorders. View Abstract
Motion-robust diffusion compartment imaging using simultaneous multi-slice acquisition. View Abstract
Electrographic spikes are common in wildtype mice. View Abstract
Yield of Emergent Neuroimaging in Patients With Sturge-Weber Syndrome Presenting With Acute Neurologic Symptoms. View Abstract
Longitudinal Effects of Everolimus on White Matter Diffusion in Tuberous Sclerosis Complex. View Abstract
Data-driven analyses revealed the comorbidity landscape of tuberous sclerosis complex. View Abstract
Sensitive Periods for Cerebellar-Mediated Autistic-like Behaviors. View Abstract
High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex. View Abstract
Corpus Callosum White Matter Diffusivity Reflects Cumulative Neurological Comorbidity in Tuberous Sclerosis Complex. View Abstract
Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. View Abstract
The mouse as a model for neuropsychiatric drug development. View Abstract
A unified circuit for social behavior. View Abstract
The Way Forward for Mechanism-Based Therapeutics in Genetically Defined Neurodevelopmental Disorders. View Abstract
mTOR'ing across the Cortex by Chopping the Cilia. View Abstract
Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. View Abstract
Automated Detection of High Frequency Oscillations in Human Scalp Electroencephalogram. View Abstract
Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. View Abstract
Vigabatrin for Epileptic Spasms and Tonic Seizures in Tuberous Sclerosis Complex. View Abstract
Quantitative Apparent Diffusion Coefficient Mapping May Predict Seizure Onset in Children With Sturge-Weber Syndrome. View Abstract
Visual and semi-automatic non-invasive detection of interictal fast ripples: A potential biomarker of epilepsy in children with tuberous sclerosis complex. View Abstract
Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex. View Abstract
Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin. View Abstract
Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome. View Abstract
Abnormal mTOR Activation in Autism. View Abstract
A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility. View Abstract
mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex. View Abstract
Clinical and genetic characterization of AP4B1-associated SPG47. View Abstract
Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders. View Abstract
Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants. View Abstract
Early autism symptoms in infants with tuberous sclerosis complex. View Abstract
Aberrant Proteostasis of BMAL1 Underlies Circadian Abnormalities in a Paradigmatic mTOR-opathy. View Abstract
Classification of respiratory disturbances in Rett Syndrome patients using Restricted Boltzmann Machine. View Abstract
Utility of the Autism Observation Scale for Infants in Early Identification of Autism in Tuberous Sclerosis Complex. View Abstract
Autism spectrum disorder and epileptic encephalopathy: common causes, many questions. View Abstract
Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism. View Abstract
Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. View Abstract
Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. View Abstract
p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis. View Abstract
Combination Clearance Therapy and Barbiturate Coma for Severe Carbamazepine Overdose. View Abstract
Influence of seizures on early development in tuberous sclerosis complex. View Abstract
Translational use of event-related potentials to assess circuit integrity in ASD. View Abstract
Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex. View Abstract
Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neurons. View Abstract
Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis Complex. View Abstract
Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells in Sturge-Weber Syndrome. View Abstract
Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex. View Abstract
Characterizing Multiscale Mechanical Properties of Brain Tissue Using Atomic Force Microscopy, Impact Indentation, and Rheometry. View Abstract
Symptom profiles of autism spectrum disorder in tuberous sclerosis complex. View Abstract
Effect of Angiofibromas on Quality of Life and Access to Care in Tuberous Sclerosis Patients and Their Caregivers. View Abstract
The Pediatric Neurology Trainee Publication Award for 2015. View Abstract
Direct current stimulation induces mGluR5-dependent neocortical plasticity. View Abstract
Metformin versus Placebo in Obese Pregnant Women without Diabetes. View Abstract
Editorial: Essential Pathways and Circuits of Autism Pathogenesis. View Abstract
Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference. View Abstract
Cell-type-specific miR-431 dysregulation in a motor neuron model of spinal muscular atrophy. View Abstract
Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. View Abstract
Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research. View Abstract
Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. View Abstract
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. View Abstract
Super-resolution reconstruction in frequency, image, and wavelet domains to reduce through-plane partial voluming in MRI. View Abstract
Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings. View Abstract
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. View Abstract
Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders. View Abstract
Tubers are neither static nor discrete: Evidence from serial diffusion tensor imaging. View Abstract
Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants. View Abstract
Characterizing brain tissue by assessment of the distribution of anisotropic microstructural environments in diffusion-compartment imaging (DIAMOND). View Abstract
Cerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex. View Abstract
The Stress-Induced Atf3-Gelsolin Cascade Underlies Dendritic Spine Deficits in Neuronal Models of Tuberous Sclerosis Complex. View Abstract
Developing therapies for spinal muscular atrophy. View Abstract
Cerebellar associative sensory learning defects in five mouse autism models. View Abstract
Tuberous Sclerosis: A New Frontier in Targeted Treatment of Autism. View Abstract
Therapeutic Advances in Autism and Other Neurodevelopmental Disorders. View Abstract
Visual Evoked Potentials as a Readout of Cortical Function in Infants With Tuberous Sclerosis Complex. View Abstract
The Circadian Protein BMAL1 Regulates Translation in Response to S6K1-Mediated Phosphorylation. View Abstract
Pediatric Neurology 2014 Trainee Publication Award Winner: Dr. Mitchel T. Williams. View Abstract
Tuberous sclerosis complex. View Abstract
Autism and the synapse: emerging mechanisms and mechanism-based therapies. View Abstract
Vigabatrin can enhance electroretinographic responses in pigmented and albino rats. View Abstract
Altered Structural Brain Networks in Tuberous Sclerosis Complex. View Abstract
Longitudinal changes in diffusion properties in white matter pathways of children with tuberous sclerosis complex. View Abstract
Genetics of neurocutaneous disorders: basic principles of inheritance as they apply to neurocutaneous syndromes. View Abstract
A vascular model of Tsc1 deficiency accelerates renal tumor formation with accompanying hemangiosarcomas. View Abstract
The neurology of mTOR. View Abstract
Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. View Abstract
Parkinson's disease: A disorder of axonal mitophagy? View Abstract
Somatic mutations in cerebral cortical malformations. View Abstract
Gene therapy for childhood neurological disease. View Abstract
Both maternal and pup genotype influence ultrasonic vocalizations and early developmental milestones in tsc2 (+/-) mice. View Abstract
SMN regulates axonal local translation via miR-183/mTOR pathway. View Abstract
Copy number variation plays an important role in clinical epilepsy. View Abstract
Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex. View Abstract
RASA1 functions in EPHB4 signaling pathway to suppress endothelial mTORC1 activity. View Abstract
EphA7 signaling guides cortical dendritic development and spine maturation. View Abstract
Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1. View Abstract
Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis. View Abstract
Trust but verify: the introduction of plagiarism detection software. View Abstract
Mechanism-based treatment in tuberous sclerosis complex. View Abstract
A mathematical framework for the registration and analysis of multi-fascicle models for population studies of the brain microstructure. View Abstract
Diffusion tensor imaging and related techniques in tuberous sclerosis complex: review and future directions. View Abstract
A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS. View Abstract
The neuroprotective drug riluzole acts via small conductance Ca2+-activated K+ channels to ameliorate defects in spinal muscular atrophy models. View Abstract
Brain functional networks in syndromic and non-syndromic autism: a graph theoretical study of EEG connectivity. View Abstract
A magnetic resonance imaging study of cerebellar volume in tuberous sclerosis complex. View Abstract
Sturge-Weber syndrome: clinical and radiological correlates in 86 patients. View Abstract
Fragile X syndrome therapeutics: translation, meet translational medicine. View Abstract
Characterizing the distribution of anisotropic micro-structural environments with diffusion-weighted imaging (DIAMOND). View Abstract
Prenatal rapamycin results in early and late behavioral abnormalities in wildtype C57BL/6 mice. View Abstract
Atypical face processing in children with tuberous sclerosis complex. View Abstract
Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. View Abstract
Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features. View Abstract
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. View Abstract
Impaired language pathways in tuberous sclerosis complex patients with autism spectrum disorders. View Abstract
Endothelial cell-fatty acid binding protein 4 promotes angiogenesis: role of stem cell factor/c-kit pathway. View Abstract
Targeted treatment trials for tuberous sclerosis and autism: no longer a dream. View Abstract
Micro-duplications of 1q32.1 associated with neurodevelopmental delay. View Abstract
A genetic model to dissect the role of Tsc-mTORC1 in neuronal cultures. View Abstract
Loss of white matter microstructural integrity is associated with adverse neurological outcome in tuberous sclerosis complex. View Abstract
Registration and analysis of white matter group differences with a multi-fiber model. View Abstract
Translational research: Rett syndrome and tuberous sclerosis complex. View Abstract
Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex. View Abstract
Febrile infection-related epilepsy syndrome (FIRES): does duration of anesthesia affect outcome? View Abstract
NMDA mediated contextual conditioning changes miRNA expression. View Abstract
Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children. View Abstract
Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits. View Abstract
Pediatric epileptology. View Abstract
Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex. View Abstract
TSC1/TSC2 signaling in the CNS. View Abstract
SMN deficiency reduces cellular ability to form stress granules, sensitizing cells to stress. View Abstract
MicroRNA profiling reveals two distinct p53-related human pluripotent stem cell states. View Abstract
Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice. View Abstract
EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation. View Abstract
Eph receptor and mTOR pathway crosstalk: implications for cancer. View Abstract
ATM signals to TSC2 in the cytoplasm to regulate mTORC1 in response to ROS. View Abstract
Diffusion features of white matter in tuberous sclerosis with tractography. View Abstract
Tsc2-Rheb signaling regulates EphA-mediated axon guidance. View Abstract
Maximum a posteriori estimation of isotropic high-resolution volumetric MRI from orthogonal thick-slice scans. View Abstract
The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. View Abstract
Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis. View Abstract
Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner. View Abstract
Promoting axon regeneration in the adult CNS by modulation of the PTEN/mTOR pathway. View Abstract
Tuberous sclerosis complex proteins control axon formation. View Abstract
Long-term results utilizing the unroofing technique in treating hydatid cysts of the liver. View Abstract
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. View Abstract
Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function. View Abstract
Loss of the tuberous sclerosis complex tumor suppressors triggers the unfolded protein response to regulate insulin signaling and apoptosis. View Abstract
Clinical presentation and diagnosis of tuberous sclerosis complex in infancy. View Abstract
Characterization of autism in young children with tuberous sclerosis complex. View Abstract
Cardiac rhabdomyoma in tuberous sclerosis: hyperactive Erk signaling. View Abstract
Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalities. View Abstract
A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. View Abstract
Neonatal subependymal giant cell astrocytoma: new case and review of literature. View Abstract
Cdk5 regulates EphA4-mediated dendritic spine retraction through an ephexin1-dependent mechanism. View Abstract
S6K1 regulates GSK3 under conditions of mTOR-dependent feedback inhibition of Akt. View Abstract
Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. View Abstract
Regulation of EphA 4 kinase activity is required for a subset of axon guidance decisions suggesting a key role for receptor clustering in Eph function. View Abstract
Eph-dependent tyrosine phosphorylation of ephexin1 modulates growth cone collapse. View Abstract
Vav family GEFs link activated Ephs to endocytosis and axon guidance. View Abstract
Focal seizure and cerebral contrast retention after cardiac catheterization. View Abstract
Prolonged treatment for acute symptomatic refractory status epilepticus: outcome in children. View Abstract
Outcome of severe refractory status epilepticus in children. View Abstract
EphA receptors regulate growth cone dynamics through the novel guanine nucleotide exchange factor ephexin. View Abstract
Prolonged treatment of refractory status epilepticus in a child. View Abstract
Antiepileptic drug-induced visual hallucinations in a child. View Abstract
Hydrocephalus associated with glycogen storage disease type II (Pompe's disease). View Abstract
Kzf1 - a novel KRAB zinc finger protein encoding gene expressed during rat spermatogenesis. View Abstract
Expression of PTPH1, a rat protein tyrosine phosphatase, is restricted to the derivatives of a specific diencephalic segment. View Abstract
Seven protein tyrosine phosphatases are differentially expressed in the developing rat brain. View Abstract
Protein tyrosine phosphatases expressed in the developing rat brain. View Abstract
Location of nicotinic and muscarinic cholinergic and mu-opiate receptors in rat cerebral neocortex: evidence from thalamic and cortical lesions. View Abstract
Molecular identification of the Lugaro cell in the cat cerebellar cortex. View Abstract
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